Mutagenetix > Incidental Mutation

Incidental Mutation 'R9747:Itga6'

732185

Institutional Source

Beutler Lab

Gene Symbol

Itga6

Ensembl Gene

ENSMUSG00000027111

Gene Name

integrin alpha 6

Synonyms

5033401O05Rik, Cd49f

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71617236-71688761 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71656871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 375 (S375L)

Ref Sequence

ENSEMBL: ENSMUSP00000028522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028522] [ENSMUST00000112101]

AlphaFold

Q61739

Predicted Effect

probably damaging
Transcript: ENSMUST00000028522
AA Change: S375L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028522
Gene: ENSMUSG00000027111
AA Change: S375L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	40	101	3.12e-6	SMART
Int_alpha	254	303	2.7e-1	SMART
Int_alpha	312	368	1.46e-11	SMART
Int_alpha	373	426	9.73e-17	SMART
Int_alpha	428	483	5.83e0	SMART
SCOP:d1m1xa2	629	786	5e-32	SMART
SCOP:d1m1xa3	797	1017	3e-55	SMART
Pfam:Integrin_alpha	1038	1052	3.2e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000112101
AA Change: S375L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107729
Gene: ENSMUSG00000027111
AA Change: S375L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Int_alpha	40	101	3.12e-6	SMART
Int_alpha	254	303	2.7e-1	SMART
Int_alpha	312	368	1.46e-11	SMART
Int_alpha	373	426	9.73e-17	SMART
Int_alpha	428	483	5.83e0	SMART
SCOP:d1m1xa2	629	786	4e-32	SMART
SCOP:d1m1xa3	797	1017	4e-55	SMART
low complexity region	1058	1070	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155249

SMART Domains

Protein: ENSMUSP00000118086
Gene: ENSMUSG00000027111

Domain	Start	End	E-Value	Type
Pfam:Integrin_alpha2	58	533	4.7e-131	PFAM
transmembrane domain	609	631	N/A	INTRINSIC
Pfam:Integrin_alpha	632	646	6.2e-8	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that is a member of the integrin superfamily. Integrins are transmembrane receptors involved cell adhesion and signaling, and they are subdivided based on the heterodimer formation of alpha and beta chains. This protein has been shown to heterodimerize with beta 4 to bind laminin and to form the main component of hemidesmosomes, which mediate attachment of epithelia to basement membranes. In mouse, deficiency of this gene is associated with absence of hemidesmosomes, severe skin blistering, and early post-natal death. In humans mutations of this gene are associated with epidermolysis bullosa. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe blistering of the skin and other epithelia, absence of hemidesmosomes, altered laminin deposition in brain, and ectopic neuroblastic outgrowths on the brain and in the eye. Mutants die at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,668,711 (GRCm39)	S701P	probably damaging	Het
Acsl1	A	G	8: 46,961,397 (GRCm39)	K114R	probably benign	Het
Adam11	A	G	11: 102,663,495 (GRCm39)	N275D	probably damaging	Het
Adamts19	G	A	18: 59,023,487 (GRCm39)	R294H	possibly damaging	Het
Adamts20	C	T	15: 94,180,943 (GRCm39)	C1666Y	probably damaging	Het
Ahnak	A	T	19: 8,987,541 (GRCm39)	I2942L	possibly damaging	Het
Ank1	A	G	8: 23,576,993 (GRCm39)	H195R	probably damaging	Het
Ank2	T	C	3: 126,752,667 (GRCm39)	T350A	probably damaging	Het
Asb3	T	A	11: 31,008,946 (GRCm39)	N243K	possibly damaging	Het
Atp10b	C	T	11: 43,088,339 (GRCm39)	T315I	probably benign	Het
Avl9	C	T	6: 56,730,825 (GRCm39)	S583F	probably damaging	Het
Bclaf1	A	G	10: 20,207,892 (GRCm39)	K700E	possibly damaging	Het
Brd10	C	A	19: 29,731,911 (GRCm39)	C367F	possibly damaging	Het
Cacna1i	G	A	15: 80,246,318 (GRCm39)	E571K	probably benign	Het
Casp1	T	A	9: 5,299,322 (GRCm39)	V17E	probably damaging	Het
Ccdc115	A	T	1: 34,478,001 (GRCm39)	D76E	probably benign	Het
Ccdc150	A	T	1: 54,299,107 (GRCm39)	R28*	probably null	Het
Cd36	T	G	5: 18,019,732 (GRCm39)	E123A	probably benign	Het
Cd5l	A	C	3: 87,275,104 (GRCm39)	Q214H	probably benign	Het
Cfap46	T	A	7: 139,191,907 (GRCm39)	H2370L	unknown	Het
Cftr	C	A	6: 18,285,636 (GRCm39)	T1148K	possibly damaging	Het
Col15a1	T	A	4: 47,312,208 (GRCm39)	L1341Q	probably damaging	Het
Col6a6	T	C	9: 105,661,239 (GRCm39)	E290G	probably benign	Het
D6Wsu163e	A	G	6: 126,938,977 (GRCm39)	E404G	probably benign	Het
Dchs1	A	T	7: 105,412,682 (GRCm39)	D1239E	probably damaging	Het
Dennd4b	C	T	3: 90,177,828 (GRCm39)	T430I	possibly damaging	Het
Dmgdh	C	T	13: 93,825,154 (GRCm39)	P159L	probably damaging	Het
Dmrt3	G	A	19: 25,600,003 (GRCm39)	D283N	probably damaging	Het
Dnttip1	A	G	2: 164,607,100 (GRCm39)	D247G	probably damaging	Het
Efhc1	A	T	1: 21,048,928 (GRCm39)	D447V	probably damaging	Het
Ehhadh	T	C	16: 21,585,138 (GRCm39)	K248E	probably benign	Het
Eif4enif1	T	C	11: 3,163,267 (GRCm39)	L34P	probably damaging	Het
Fer	T	C	17: 64,214,376 (GRCm39)	M103T	probably benign	Het
Gabrg1	T	C	5: 70,938,029 (GRCm39)	M197V	probably damaging	Het
Galnt5	C	A	2: 57,889,477 (GRCm39)	T359K	probably benign	Het
Gm8108	G	T	14: 4,110,527 (GRCm38)		probably benign	Het
Gna12	T	C	5: 140,746,602 (GRCm39)	N281S	probably damaging	Het
Golgb1	C	T	16: 36,713,769 (GRCm39)	T250I	probably damaging	Het
Gpd1	A	G	15: 99,618,004 (GRCm39)	K130E	probably benign	Het
Gys2	A	T	6: 142,395,181 (GRCm39)	M428K	possibly damaging	Het
Hey2	A	C	10: 30,709,824 (GRCm39)	S310A	probably benign	Het
Ifi47	T	C	11: 48,987,367 (GRCm39)	V378A	possibly damaging	Het
Ighv8-12	A	G	12: 115,611,640 (GRCm39)	S95P	probably damaging	Het
Igkv1-131	G	T	6: 67,743,215 (GRCm39)	T56K	probably damaging	Het
Igsf23	T	C	7: 19,675,839 (GRCm39)	N127S	probably benign	Het
Iqgap2	T	A	13: 95,821,505 (GRCm39)	N546I	probably damaging	Het
Irf9	A	G	14: 55,844,045 (GRCm39)	H270R	probably benign	Het
Jak1	T	C	4: 101,016,087 (GRCm39)	E857G	probably benign	Het
Kbtbd8	A	G	6: 95,098,838 (GRCm39)	T116A	possibly damaging	Het
Kif5a	T	C	10: 127,074,622 (GRCm39)	I570V	probably benign	Het
Klhdc10	T	C	6: 30,439,859 (GRCm39)	M154T	possibly damaging	Het
Krtap6-2	A	G	16: 89,216,776 (GRCm39)	Y64H	unknown	Het
Lce1l	C	T	3: 92,757,828 (GRCm39)	C10Y	unknown	Het
Lrrc72	A	G	12: 36,264,371 (GRCm39)	Y29H	probably damaging	Het
Ltbp2	A	T	12: 84,915,515 (GRCm39)	N181K	probably damaging	Het
Ly75	A	G	2: 60,136,672 (GRCm39)		probably null	Het
Mpped1	A	G	15: 83,684,305 (GRCm39)	Y109C	probably damaging	Het
Mrgpra2a	C	T	7: 47,076,458 (GRCm39)	V267I	probably benign	Het
Muc4	T	A	16: 32,754,698 (GRCm38)	V1524E	probably benign	Het
Nabp2	T	A	10: 128,237,610 (GRCm39)	R208*	probably null	Het
Ndst3	A	G	3: 123,340,461 (GRCm39)	F786L	possibly damaging	Het
Nos2	C	T	11: 78,822,472 (GRCm39)	P123S	probably damaging	Het
Nrcam	T	A	12: 44,645,192 (GRCm39)	V1198E	probably damaging	Het
Oacyl	A	G	18: 65,880,962 (GRCm39)	Q592R	possibly damaging	Het
Or10ak9	C	T	4: 118,726,217 (GRCm39)	P80S	probably damaging	Het
Or5as1	T	A	2: 86,980,898 (GRCm39)	T36S	probably benign	Het
Pcdhgc4	A	G	18: 37,951,026 (GRCm39)	Y814C	probably benign	Het
Pcm1	A	C	8: 41,757,135 (GRCm39)	H1349P	probably benign	Het
Pcsk6	T	A	7: 65,633,470 (GRCm39)	D567E	probably damaging	Het
Pdgfd	T	C	9: 6,337,310 (GRCm39)	V214A	probably benign	Het
Plekhg3	A	T	12: 76,611,367 (GRCm39)	N270I	probably damaging	Het
Rasgrf1	T	A	9: 89,877,047 (GRCm39)	V804E	probably benign	Het
Rbl1	G	T	2: 157,033,966 (GRCm39)	L371I	probably damaging	Het
Rcl1	T	A	19: 29,105,482 (GRCm39)	I223N	probably damaging	Het
Saa4	C	T	7: 46,381,077 (GRCm39)	G15E	probably damaging	Het
Selenbp1	T	C	3: 94,844,648 (GRCm39)	S102P	probably damaging	Het
Setx	G	T	2: 29,064,377 (GRCm39)	E232*	probably null	Het
Sik2	A	G	9: 50,810,058 (GRCm39)	F502L	possibly damaging	Het
Slamf9	A	T	1: 172,305,782 (GRCm39)	I272F	unknown	Het
Slc33a1	A	T	3: 63,861,424 (GRCm39)	D259E	probably benign	Het
Slc41a3	A	G	6: 90,621,138 (GRCm39)	I393V	probably benign	Het
Slk	A	G	19: 47,608,346 (GRCm39)	D433G	possibly damaging	Het
Spata13	C	T	14: 60,929,240 (GRCm39)	P266L	probably benign	Het
Speer4c1	T	A	5: 15,916,652 (GRCm39)	Q105L	probably benign	Het
Srgap1	T	A	10: 121,761,771 (GRCm39)	I126F	probably damaging	Het
Srgap1	A	G	10: 121,628,579 (GRCm39)	S818P	probably benign	Het
Tbpl2	A	T	2: 23,981,104 (GRCm39)	C232*	probably null	Het
Tctn3	T	G	19: 40,599,743 (GRCm39)	N153T	possibly damaging	Het
Tdrd1	T	A	19: 56,847,101 (GRCm39)	V914E	probably benign	Het
Tmem200b	A	G	4: 131,649,359 (GRCm39)	H93R	possibly damaging	Het
Tmem33	T	G	5: 67,425,922 (GRCm39)	N155K	possibly damaging	Het
Tmprss15	T	C	16: 78,884,400 (GRCm39)	D94G	probably benign	Het
Tnpo2	A	G	8: 85,781,988 (GRCm39)	D869G	probably benign	Het
Traf6	C	T	2: 101,527,029 (GRCm39)	R260*	probably null	Het
Ttn	C	T	2: 76,594,293 (GRCm39)	V20552I	possibly damaging	Het
Vmn2r102	T	A	17: 19,898,129 (GRCm39)	D381E	probably benign	Het
Vmn2r92	T	C	17: 18,405,201 (GRCm39)	F782L	possibly damaging	Het
Zfc3h1	G	A	10: 115,244,821 (GRCm39)	D765N	possibly damaging	Het
Zfp472	T	A	17: 33,196,271 (GRCm39)	H115Q	possibly damaging	Het
Zmynd11	T	A	13: 9,739,244 (GRCm39)	N514I	probably benign	Het

Other mutations in Itga6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Itga6	APN	2	71,668,606 (GRCm39)	splice site	probably null
IGL00902:Itga6	APN	2	71,679,738 (GRCm39)	missense	probably benign	0.39
IGL01360:Itga6	APN	2	71,617,670 (GRCm39)	splice site	probably null
IGL01621:Itga6	APN	2	71,656,000 (GRCm39)	missense	probably benign	0.02
IGL01877:Itga6	APN	2	71,668,624 (GRCm39)	missense	probably benign
IGL02332:Itga6	APN	2	71,668,717 (GRCm39)	missense	possibly damaging	0.63
IGL02556:Itga6	APN	2	71,669,027 (GRCm39)	missense	probably benign	0.20
IGL02713:Itga6	APN	2	71,647,057 (GRCm39)	missense	possibly damaging	0.79
IGL02811:Itga6	APN	2	71,657,076 (GRCm39)	missense	probably damaging	0.98
IGL03171:Itga6	APN	2	71,671,673 (GRCm39)	critical splice donor site	probably null
isle_royale	UTSW	2	71,617,577 (GRCm39)	missense	probably benign	0.04
PIT4418001:Itga6	UTSW	2	71,664,414 (GRCm39)	missense	probably benign	0.06
R0070:Itga6	UTSW	2	71,657,060 (GRCm39)	unclassified	probably benign
R0611:Itga6	UTSW	2	71,650,404 (GRCm39)	missense	possibly damaging	0.84
R1404:Itga6	UTSW	2	71,669,060 (GRCm39)	missense	probably benign
R1404:Itga6	UTSW	2	71,669,060 (GRCm39)	missense	probably benign
R1439:Itga6	UTSW	2	71,664,378 (GRCm39)	missense	probably damaging	1.00
R1487:Itga6	UTSW	2	71,673,584 (GRCm39)	missense	possibly damaging	0.87
R1713:Itga6	UTSW	2	71,617,546 (GRCm39)	missense	probably benign
R1720:Itga6	UTSW	2	71,650,510 (GRCm39)	missense	probably damaging	1.00
R1816:Itga6	UTSW	2	71,671,153 (GRCm39)	missense	probably benign	0.00
R1866:Itga6	UTSW	2	71,664,414 (GRCm39)	missense	probably benign
R2009:Itga6	UTSW	2	71,647,025 (GRCm39)	missense	probably benign	0.26
R2018:Itga6	UTSW	2	71,648,828 (GRCm39)	missense	probably benign	0.16
R2171:Itga6	UTSW	2	71,650,358 (GRCm39)	missense	probably damaging	1.00
R2189:Itga6	UTSW	2	71,655,961 (GRCm39)	missense	probably benign	0.00
R2289:Itga6	UTSW	2	71,648,873 (GRCm39)	missense	probably damaging	0.99
R2399:Itga6	UTSW	2	71,650,358 (GRCm39)	missense	probably damaging	1.00
R4437:Itga6	UTSW	2	71,655,982 (GRCm39)	missense	probably benign	0.42
R4482:Itga6	UTSW	2	71,686,259 (GRCm39)	missense	probably damaging	1.00
R4773:Itga6	UTSW	2	71,652,788 (GRCm39)	missense	probably benign	0.13
R4786:Itga6	UTSW	2	71,669,034 (GRCm39)	missense	possibly damaging	0.80
R4898:Itga6	UTSW	2	71,668,717 (GRCm39)	missense	possibly damaging	0.77
R5074:Itga6	UTSW	2	71,656,779 (GRCm39)	missense	probably benign
R5386:Itga6	UTSW	2	71,671,494 (GRCm39)	missense	probably damaging	1.00
R5591:Itga6	UTSW	2	71,670,934 (GRCm39)	missense	probably damaging	1.00
R6024:Itga6	UTSW	2	71,617,577 (GRCm39)	missense	probably benign	0.04
R6174:Itga6	UTSW	2	71,664,053 (GRCm39)	missense	possibly damaging	0.88
R6210:Itga6	UTSW	2	71,664,351 (GRCm39)	critical splice acceptor site	probably null
R6432:Itga6	UTSW	2	71,664,116 (GRCm39)	missense	possibly damaging	0.75
R6644:Itga6	UTSW	2	71,671,468 (GRCm39)	missense	probably damaging	1.00
R7354:Itga6	UTSW	2	71,650,574 (GRCm39)	missense	probably damaging	1.00
R7402:Itga6	UTSW	2	71,683,897 (GRCm39)	missense	probably benign	0.05
R7479:Itga6	UTSW	2	71,668,680 (GRCm39)	nonsense	probably null
R7635:Itga6	UTSW	2	71,673,577 (GRCm39)	missense	probably benign	0.00
R7657:Itga6	UTSW	2	71,676,595 (GRCm39)	missense	probably benign	0.40
R7737:Itga6	UTSW	2	71,652,787 (GRCm39)	missense	probably benign	0.38
R7782:Itga6	UTSW	2	71,671,879 (GRCm39)	missense	probably damaging	0.98
R8062:Itga6	UTSW	2	71,672,087 (GRCm39)	missense	probably benign	0.11
R8312:Itga6	UTSW	2	71,686,297 (GRCm39)	missense	probably benign
R8698:Itga6	UTSW	2	71,673,618 (GRCm39)	missense	probably benign
R9080:Itga6	UTSW	2	71,673,633 (GRCm39)	missense	probably benign
R9169:Itga6	UTSW	2	71,647,015 (GRCm39)	missense	possibly damaging	0.74
R9209:Itga6	UTSW	2	71,671,477 (GRCm39)	missense	probably benign	0.27
R9267:Itga6	UTSW	2	71,668,756 (GRCm39)	missense	probably benign	0.00
R9483:Itga6	UTSW	2	71,679,834 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTAGCAGTGGTCCCTAGCTCTC -3'
(R):5'- CATCATAGGGAGCTCCAACAG -3'

Sequencing Primer
(F):5'- CCCCTTCGTTGTGTTTCTAGGTG -3'
(R):5'- ACAGCAATATCTGTTGACACAAC -3'

Posted On

2022-11-14